As the anesthesia brain fog slowly lifts and I come to terms with the reality of what I just did, I feel all sorts of emotions but none of them are regret. I am now two weeks post my revision surgery and three months past my initial prophylactic mastectomy and I feel damn good.  

Fragile X syndrome is the most common inherited form of intellectual disability and a leading cause of autism spectrum disorder. It affects more males than females due to how it is inherited.   What causes fragile X syndrome? Fragile X syndrome is caused by changes in the FMR1 gene found on the X chromosome. Typically,

  “Due in part to my medical background and to my passion for Judaism I knew that bringing JScreen to my community was something very important to me. Taking care of children in the pediatric ICU has exposed me to numerous genetic diseases as well as knowing people in my own community whose families have

  At JScreen, we believe that a combination of education, access to state-of-the-art testing technology, and personalized support by qualified medical professionals are key to preventing devastating genetic diseases and helping people live healthier lives. As the only national non-profit program offering genetic testing and counseling, we help fulfill that mission every single day.  

  One of the most common questions we hear at JScreen is some version of, “Are you sure that I don’t need to get my blood drawn?” The answer is yes! The DNA that comes from blood is the same as the DNA from saliva, so the accuracy of both types of tests is the

  23 years ago, this past March my husband, Jim and I lost our firstborn, Corey to Niemann-Pick Type A Disease, a severe and currently incurable neurodegenerative disorder.    Corey passed away at the young age of 2 ½. Today, Corey would have been 25 years old. While the years have passed, and time has

  Twenty-six years ago, our father was diagnosed with Gaucher disease. A “simple” broken shoulder turned into years of getting the wrong treatments and one false diagnosis after another until one doctor encouraged further genetic testing. It was at that point, Gaucher disease became a huge part of our family. For the last twenty-six years,

  “What’s the point?” We spend a lot of time talking about how genetic testing has the potential to save lives by giving us information that can be used to prevent cancer, lower risks, and diagnose it at earlier (and more treatable) stages. But people who have already been diagnosed with cancer may feel that

  I am a proud Previvor. I’m the daughter and granddaughter of breast cancer survivors and my father was lucky enough to discover his prostate cancer very early on. Considering my family history with cancer, in 2012 I decided to get genetic testing to see if I had one of the BRCA gene mutations. I

  While walking through Target the other day, we passed a 23andMe testing kit display. I made a comment about how the display was half empty to my husband, who replied “Classic. You go to Target to pick up some hand soap and cereal and you walk out with your entire genetic map!” I laughed